| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary neuropathy or pain disorder v0.48 | CYP27A1 | Louise Daugherty changed review comment from: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca). Although Extension of panel scope - syndrome with non-neurological features / Broader phenotype - cerebrotendinous xanthomatosis, it was noted that it was good to pick up early; to: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca). Although Extension of panel scope - syndrome with non-neurological features / Broader phenotype - cerebrotendinous xanthomatosis, it was noted that it was good to pick up early so advised Green rating over Amber for R57 panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.48 | CYP27A1 | Louise Daugherty edited their review of gene: CYP27A1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.48 | CYP27A1 | Louise Daugherty changed review comment from: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - cerebrotendinous xanthomatosis; to: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca). Although Extension of panel scope - syndrome with non-neurological features / Broader phenotype - cerebrotendinous xanthomatosis, it was noted that it was good to pick up early | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.48 | CYP27A1 | Louise Daugherty Classified gene: CYP27A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.48 | CYP27A1 | Louise Daugherty Gene: cyp27a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.45 | CYP27A1 | Louise Daugherty commented on gene: CYP27A1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - cerebrotendinous xanthomatosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.45 | CYP27A1 | Louise Daugherty Classified gene: CYP27A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.45 | CYP27A1 | Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.45 | CYP27A1 | Louise Daugherty Gene: cyp27a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.1 | CYP27A1 |
Ellen McDonagh gene: CYP27A1 was added gene: CYP27A1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP27A1 were set to 22878431 Phenotypes for gene: CYP27A1 were set to SNCV described in a minority of patients; Adolescent-onset progressive ataxia, myelopathy and dementia, cataracts, low cholesterol, atherosclerosis, xanthomas, soft palate myoclonus, intractable infantile-onset diarrhoea, cerebral white matter lesions on MRI, sensory to motor axonal neuropathy; Cerebrotendinous xanthomatosis, 213700 |
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